49, XXXXY syndrome: An infant presenting with ambiguous genitalia

Abstract

Presences of normal genes on the Y chromosome are essential for normal sex determination and sex differentiation of male genitalia. Several genes on the X chromosome and other autosomes have been shown to be anti-testes and have a detrimental effect on the development process of normal male genital system. The addition of X chromosomes to the 46, XY karyotype results in seminiferous tubules dysgenesis, hypogonadism, and malformed genitalia. We report an infant male with 49, XXXXY syndrome presenting with ambiguous genitalia and multiple extra-gonadal anomalies.

Keywords

• 49 XXXXY syndrome
• ambiguous genitalia
• intrauterine growth restriction
• sex chromosome aneuploidy